OsteopetrosisSymptoms, Doctors, Treatments, Advances & More
Learn About Osteopetrosis
Osteopetrosis is a bone disease that makes bone tissue abnormally compact and dense and also prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant or autosomal recessive. The different types of the disorder can also be distinguished by the severity of their signs and symptoms.
Variants (also called mutations) in at least eight genes cause the various types of osteopetrosis. Variants in the CLCN7 gene are responsible for about 75 percent of cases of autosomal dominant osteopetrosis, 10 to 15 percent of cases of autosomal recessive osteopetrosis, and all known cases of intermediate autosomal osteopetrosis. TCIRG1 gene variants cause about 50 percent of cases of autosomal recessive osteopetrosis. Variants in other genes are less common causes of autosomal dominant and autosomal recessive forms of the disorder. In about 30 percent of all cases of osteopetrosis, the cause of the condition is unknown.
Autosomal dominant osteopetrosis is the most common form of the disorder, affecting about 1 in 20,000 people. Autosomal recessive osteopetrosis is rarer, occurring in an estimated 1 in 250,000 people.
Osteopetrosis can have several different patterns of inheritance. Most commonly, the disorder has an autosomal dominant inheritance pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Most people with autosomal dominant osteopetrosis inherit the condition from an affected parent.
Indiana University Health University Hospital
Michael Econs is an Endocrinologist practicing medicine in Indianapolis, Indiana. Dr. Econs is rated as an Elite provider by MediFind in the treatment of Osteopetrosis. He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses Osteosclerosis Autosomal Dominant, Osteopetrosis, X-Linked Hypophosphatemia, and Hypophosphatemia.
Ansgar Schulz practices practicing medicine in Kassel, Germany. Schulz is rated as an Elite expert by MediFind in the treatment of Osteopetrosis. They are also highly rated in 31 other conditions, according to our data. Their clinical expertise encompasses Osteopetrosis, Severe Combined Immunodeficiency (SCID), CLN2 Disease, Bone Marrow Transplant, and Splenectomy.
Morten Karsdal practices practicing medicine in Herlev, Denmark. Mr. Karsdal is rated as an Elite expert by MediFind in the treatment of Osteopetrosis. He is also highly rated in 54 other conditions, according to our data. His clinical expertise encompasses Cirrhosis, Osteoarthritis, Arthritis, Kidney Transplant, and Endoscopy.
Summary: Osteoporosis is a multifactorial disease in which genetic predispositions play a key role in its development. A better understanding of family history and clinical manifestations among first- and second-degree relatives can help improve early detection and personalized care for at-risk patients. To this end, we will test a self-administered questionnaire previously developed by our research team. ...
Summary: The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the effects of interventions.
Published Date: September 01, 2010
Published By: National Institutes of Health